Characteristics of respiratory muscle involvement in myotonic dystrophy type 1

Myotonic dystrophy type 1 (DM1) is an inherited multisystem disorder comprising progressive muscular dystrophy, myotonia, cardiac and endocrine abnormalities, and cataract. This disease follows an autosomal dominant trait and is caused by an expansion of a trinucleotide CTG-repeat in the 3 ’-untranslated region of the DMPK gene on chromosome 19 [1]. Estimated prevalence of DM1 is 3-15/100,000 in the western world with an exceptional peak of 1:500 in Quebec (Canada) [2]. Respiratory compromise may be caused by both respiratory muscle weakness [3] and blunting of the chemoreceptors wh ich regulate respiratory drive [3, 4].

Source: Neuromuscular Disorders - November 4, 2019 Category: Neurology Authors: Carolin Henke, Jens Spiesshoefer, Hans-Joachim Kabitz, Simon Herkenrath, Winfried Randerath, Tobias Brix, Dennis G örlich, Peter Young, Matthias Boentert Source Type: research